Epileptic encephalopathy (Version 1.158)

This Panel is marked as Retired

Description

Epileptic encephalopathy eligibility statement:

Epileptic encephalopathy inclusion criteria (29508)
- Recurrent seizures with onset of epilepsy prior to two years of age AND
- Negative genome wide microarray copy number analysis

Epileptic encephalopathy exclusion criteria (29508)
- Major structural brain malformation such as cortical malformation, neuronal migration defect AND/OR
- Known clear biochemical, enzymatic or molecular genetic evidence of underlying metabolic cause, e.g. organic aciduria, vitamin B6 metabolism defect

Prior genetic testing guidance (29508)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement (29508)
These requirements will be kept under continual review during the main programme and may be subject to change.

Panel Activity

21 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Richard Scott (North Thames GMC/UCL)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Donavan Cheng (Illumina)

Group: Other biotech or pharmaceutical
Workplace: Industry
Andrea Haworth (ACGS, Congenica)

Group: Other biotech or pharmaceutical
Workplace: Other clinical service
Natalie Trump (NHS - Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Manju Kurian (UCL-Institute of Child Health)

Group: GeCIP domain
Workplace: NHS clinical service
Amy McTague (UCL Institute of Child Health)

Group: Other NHS organisation
Workplace: Research lab
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Pedro Louro (Guy's Hospital)

Group: Other NHS organisation
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Cristina Dias (The Francis Crick Institute)

Group: NHS Genomic Medicine Centre
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Feyzollah Hashemi-Gorji (Genomic Research Center, Shahid Beheshti University of Medical Sciences)

Group: Other
Workplace: Research lab
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Alistair Pagnamenta (University of Oxford)

Group: GeCIP domain
Workplace: Research lab

185 Entities

185 reviewed, 111 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 185 Entitiess
Green Green List (high evidence)	ADSL	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green UKGTN Phenotypes Adenylosuccinase deficiency Tags
Green Green List (high evidence)	ALG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Congenital disorder of glycosylation, type Ip 613661 Tags
Green Green List (high evidence)	ALG13	5 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green UKGTN Phenotypes Congenital disorder of glycosylation, type Is Infantile spasms and LGS Tags
Green Green List (high evidence)	ARHGEF9	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Tags
Green Green List (high evidence)	ARX	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Tags
Green Green List (high evidence)	ATN1_CAG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Dentatorubro-pallidoluysian atrophy 125370 Tags STR
Green Green List (high evidence)	ATP1A3	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Alternating hemiplegia of childhood 2 Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly Dystonia-12 CAPOS Syndrome (recurrent mutation) Tags
Green Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IIA 219200 Wrinkly skin syndrome 278250 Tags
Green Green List (high evidence)	ATRX	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert Review Green UKGTN Phenotypes Alpha-thalassemia/mental retardation syndrome Mental retardation-hypotonic facies syndrome, X-linked Tags
Green Green List (high evidence)	BSCL2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Encephalopathy, progressive, with or without lipodystrophy 615924 Lipodystrophy, congenital generalized, type 2 269700 Neuropathy, distal hereditary motor, type VA 600794 Silver spastic paraplegia syndrome 270685 Tags
Green Green List (high evidence)	CACNA1D	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD Sinoatrial node dysfunction and deafness 614896 AR Tags
Green Green List (high evidence)	CDKL5	5 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Angelman syndrome-like Epileptic encephalopathy, early infantile, 2 Tags
Green Green List (high evidence)	CHD2	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	CIC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 45 617600 Tags
Green Green List (high evidence)	CLTC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Mental retardation, autosomal dominant 56, 617854 Autosomal dominant non-syndromic intellectual disability Epilepsy and intellectual disability Tags
Green Green List (high evidence)	CNTNAP2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green UKGTN Phenotypes Cortical dysplasia-focal epilepsy syndrome Pitt-Hopkins like syndrome 1 Tags
Green Green List (high evidence)	CSTB_CCCCGCCCCGCG STR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Tags STR
Green Green List (high evidence)	CYFIP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Tags
Green Green List (high evidence)	DIAPH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM:616632 Tags
Green Green List (high evidence)	DNM1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Tags
Green Green List (high evidence)	DOCK7	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 EIEE23 Tags
Green Green List (high evidence)	DPYD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes 5-fluorouracil toxicity 274270 Dihydropyrimidine dehydrogenase deficiency 274270 Tags pharmacogenetics
Green Green List (high evidence)	DYRK1A	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 Tags
Green Green List (high evidence)	EHMT1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes Kleefstra syndrome Tags
Green Green List (high evidence)	EML1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Band heterotopia, 600348 Tags
Green Green List (high evidence)	EPG5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Vici syndrome, 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM Tags
Green Green List (high evidence)	FOXG1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Rett syndrome, congenital variant Tags
Green Green List (high evidence)	GABBR2	5 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Rett syndrome Tags de novo
Green Green List (high evidence)	GABRA1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 19 EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	GABRB3	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Epilepsy, childhood absence, susceptibility to, 5 EPILEPTIC ENCEPHALOPATHIES Tags
Green Green List (high evidence)	GLYCTK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes D-glyceric aciduria 220120 Tags treatable
Green Green List (high evidence)	GNAO1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes EPILEPTIC ENCEPHALOPATHY Epileptic encephalopathy, early infantile, 17 Tags
Green Green List (high evidence)	GPAA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green Green List (high evidence)	GRIN1	6 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 NDHMSR Mental retardation, autosomal dominant 8 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 NDHMSD early onset epileptic encephalopathies involuntary movements severe developmental delay intellectual disability EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	GRIN2A	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS LANDAU-KLEFFNER SYNDROME Tags
Green Green List (high evidence)	GRIN2B	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Mental retardation, autosomal dominant 6 Epileptic encephalopathy, early infantile, 27 EPILEPTIC ENCEPHALOPATHY AUTISM Tags
Green Green List (high evidence)	GSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Glutathione synthetase deficiency 266130 Hemolytic anemia due to glutathione synthetase deficiency 231900 Tags treatable
Green Green List (high evidence)	HCN1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 24 Tags
Green Green List (high evidence)	HMGCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes HMG-CoA lyase deficiency, 246450 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCLD Tags
Green Green List (high evidence)	HNRNPH2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Other Phenotypes Mental retardation, X-linked, syndromic, Bain type, 300986 MRXSB Tags
Green Green List (high evidence)	HNRNPU	6 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy Epileptic encephalopathy, early infantile, 54, 617391 Tags
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Green Green List (high evidence)	IDH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes D-2-hydroxyglutaric aciduria 2 613657 Tags
Green Green List (high evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 MEDS Tags
Green Green List (high evidence)	IQSEC2	5 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Phenotypes Mental retardation, X-linked 1 Tags
Green Green List (high evidence)	ITPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 35, 616647 Tags pharmacogenetics
Green Green List (high evidence)	KCNA2	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 32 EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	KCNB1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 26 Tags
Green Green List (high evidence)	KCNJ10	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME) SESAME syndrome Tags
Green Green List (high evidence)	KCNQ2	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1) EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7) Epileptic encephalopathy, early infantile, 7 Myokymia Seizures, benign neonatal, 1 Tags
Green Green List (high evidence)	KCNQ3	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Phenotypes Seizures, benign neonatal, type 2 Tags
Green Green List (high evidence)	KCNT1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epileptic encephalopathy, early infantile, 14 Epilepsy, nocturnal frontal lobe, 5 MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Tags
Green Green List (high evidence)	KIF1BP	7 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Goldberg-Shprintzen megacolon syndrome Tags new-gene-name
Green Green List (high evidence)	MAPK10	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Epileptic Encephalopathy EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE Tags
Green Green List (high evidence)	MBD5	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes Mental retardation, autosomal dominant 1 Tags
Green Green List (high evidence)	MDH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 51 617339 Tags
Green Green List (high evidence)	MECP2	5 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Encephalopathy, neonatal severe Angelman syndrome Mental retardation, X-linked syndromic, Lubs type Mental retardation, X-linked, syndromic 13 Rett syndrome Tags
Green Green List (high evidence)	MEF2C	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Mental retardation, autosomal dominant 20 MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Tags
Green Green List (high evidence)	MFF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 Tags
Green Green List (high evidence)	MOGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIb, 606056 Tags
Green Green List (high evidence)	MTOR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Focal cortical dysplasia, type II, somatic 607341 Tags mosaicism somatic
Green Green List (high evidence)	NACC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 Tags
Green Green List (high evidence)	NEXMIF	6 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Mental retardation, X-linked 98 Tags
Green Green List (high evidence)	PCDH19	5 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epileptic encephalopathy, early infantile, 9 Tags x-linked-over-dominance
Green Green List (high evidence)	PIGA	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 Tags
Green Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 Tags
Green Green List (high evidence)	PLCB1	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Early Infantile Epileptic Encephalopathy, Autosomal Recessive Epileptic encephalopathy, early infantile, 12 Tags
Green Green List (high evidence)	PLPBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 Tags treatable
Green Green List (high evidence)	PNKP	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Early infantile epileptic encephalopathy type 10 Ataxia-oculomotor apraxia 4 Microcephaly, seizures, and developmental delay Tags
Green Green List (high evidence)	POLG	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green UKGTN Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type) Mitochondrial DNA depletion syndrome 4B (MNGIE type) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Tags
Green Green List (high evidence)	PRODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hyperprolinemia, type I 239500 Tags
Green Green List (high evidence)	PRRT2	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis Episodic kinesigenic dyskinesia 1 Seizures, benign familial infantile, 2 BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME Tags
Green Green List (high evidence)	PURA	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mental retardation, autosomal dominant 31 INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	QARS	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Tags new-gene-name
Green Green List (high evidence)	RANBP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033 Tags treatable
Green Green List (high evidence)	SCN1A	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Dravet syndrome Epilepsy, generalized, with febrile seizures plus, type 2 Febrile seizures, familial, 3A Tags
Green Green List (high evidence)	SCN1B	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Phenotypes Epilepsy, generalized, with febrile seizures plus, type 1 Tags
Green Green List (high evidence)	SCN2A	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Early Infantile Epileptic Encephalopathy, Autosomal Dominant Seizures, benign familial infantile, 3 Epileptic encephalopathy, early infantile, 11 BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES Tags
Green Green List (high evidence)	SCN8A	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cognitive impairment with or without cerebellar ataxia Intellectual disability Epileptic encephalopathy, early infantile, 13 Tags
Green Green List (high evidence)	SETD5	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mental retardation, autosomal dominant 23 Tags
Green Green List (high evidence)	SIK1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes NEONATAL EPILEPSY SPECTRUM Epileptic encephalopathy, early infantile, 30 Tags
Green Green List (high evidence)	SLC12A5	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes epilepsy of infancy with migrating focal seizures (EIMFS) Tags
Green Green List (high evidence)	SLC13A5	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 25 Tags
Green Green List (high evidence)	SLC16A2	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes Allan-Herndon-Dudley syndrome Tags
Green Green List (high evidence)	SLC1A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 41, 617105 Tags
Green Green List (high evidence)	SLC25A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Tags
Green Green List (high evidence)	SLC25A22	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epileptic encephalopathy, early infantile, 3 Tags
Green Green List (high evidence)	SLC2A1	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green UKGTN Phenotypes Dystonia 9 Tags treatable
Green Green List (high evidence)	SLC35A2	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Other Phenotypes Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy) Epileptic encephalopathy, early infantile, 22 (EIEE22) early-onset epileptic encephalopathy Tags
Green Green List (high evidence)	SLC6A1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Tags
Green Green List (high evidence)	SLC6A19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hartnup disorder 234500 Tags
Green Green List (high evidence)	SLC9A6	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes Mental retardation, X-linked syndromic, Christianson type Tags
Green Green List (high evidence)	SPATA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, hearing loss, and mental retardation syndrome 616577 Tags
Green Green List (high evidence)	SPTAN1	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epileptic encephalopathy, early infantile, 5 Tags
Green Green List (high evidence)	STX1B	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Tags
Green Green List (high evidence)	STXBP1	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epileptic encephalopathy, early infantile, 4 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Sulfite oxidase deficiency 272300 Tags
Green Green List (high evidence)	SYNGAP1	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Mental retardation, autosomal dominant 5 Tags
Green Green List (high evidence)	SYNJ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Epileptic encephalopathy, early infantile, 53, 617389 Tags
Green Green List (high evidence)	SZT2	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 18, 615476 Tags
Green Green List (high evidence)	TCF4	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Pitt-Hopkins syndrome Tags
Green Green List (high evidence)	TRAK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fatal encephalopathy Tags
Green Green List (high evidence)	TRPM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hypomagnesemia 1, intestinal 602014 Tags
Green Green List (high evidence)	UBE2A	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes Mental retardation, X-linked syndromic, Nascimento-type Tags
Green Green List (high evidence)	UBE3A	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Expert Review Green UKGTN Phenotypes Angelman syndrome Tags
Green Green List (high evidence)	WASF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes ID associated with autistic features, seizures, and developmental delay intellectual disability Tags
Green Green List (high evidence)	WDR45	5 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Tags
Green Green List (high evidence)	WDR45B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations Tags
Green Green List (high evidence)	WWOX	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Tags
Green Green List (high evidence)	YWHAG	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile 56, 617665 Seizures, multiple types Tags
Green Green List (high evidence)	ZEB2	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Phenotypes Mowat-Wilson syndrome Tags
Amber Amber List (moderate evidence)	ATP6AP2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Mental retardation, X-linked, syndromic, Hedera type 300423 Tags
Amber Amber List (moderate evidence)	HAX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 Tags
Amber Amber List (moderate evidence)	TSC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Focal cortical dysplasia, type II, somatic 607341 Tags mosaicism somatic
Red Red List (low evidence)	ABAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes GABA-transaminase deficiency Tags
Red Red List (low evidence)	ALDH7A1	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	AP3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Epileptic encephalopathy, early infantile, 48 617276 Tags
Red Red List (low evidence)	ATP1A2	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	BTD	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CACNA1A	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CACNA1H	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CACNB4	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CASK	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CBL	5 reviews 4 red	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	CCDC88C	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Spinocerebellar ataxia 40 616053 AD Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR Tags
Red Red List (low evidence)	CHRNA2	6 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Red Phenotypes Epilepsy, nocturnal frontal lobe, type 4 Tags
Red Red List (low evidence)	CHRNA4	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red UKGTN Phenotypes Epilepsy, nocturnal frontal lobe, 1 Tags
Red Red List (low evidence)	CHRNB2	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red UKGTN Phenotypes Epilepsy, nocturnal frontal lobe, 3 Tags
Red Red List (low evidence)	CLN3	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CLN5	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CLN6	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CLN8	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	COL4A1	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	COL4A2	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CRH	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CSNK1G1	5 reviews 4 red	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	CSTB	5 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CTSD	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	DEPDC5	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	EEF1A2	4 reviews 4 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Tags
Red Red List (low evidence)	EFHC1	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	EPM2A	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GABRD	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GABRG2	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GAMT	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GATAD2B	5 reviews 4 red	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	GATM	5 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GLRA1	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GLRB	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GOSR2	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GPHN	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	HLCS	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	KCNA1	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	KCNC1	5 reviews 4 red	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	KCNMA1	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	KCTD7	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	LGI1	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red UKGTN Phenotypes Epilepsy, familial temporal lobe, 1 Tags
Red Red List (low evidence)	MAGI2	6 reviews 4 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes Infantile Spasms Tags
Red Red List (low evidence)	MFSD8	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	MOCS1	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	MOCS2	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	MT-TL1	4 reviews 4 red	MITOCHONDRIAL	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	NECAP1	4 reviews 4 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Epileptic encephalopathy, early infantile,21 Tags
Red Red List (low evidence)	NHLRC1	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	NRXN1	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red UKGTN Tags
Red Red List (low evidence)	PCDH12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes intellectual disability microcephaly epilepsy perithalamic hyperechogenicity periventricular hyperechogenicity midbrain abnormalities hypothalamic abnormalities Tags founder-effect
Red Red List (low evidence)	PIGQ	6 reviews 4 red	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	PNPO	5 reviews 1 green 4 red	Not set	Sources Expert Expert Review Red Tags treatable
Red Red List (low evidence)	PPT1	5 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	PRICKLE1	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	PRICKLE2	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	RYR3	5 reviews 4 red	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	SCARB2	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SCN2B	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SCN9A	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SLC6A5	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SLC6A8	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SMS	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SRPX2	4 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	ST3GAL3	4 reviews 4 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 15 Tags
Red Red List (low evidence)	TBC1D24	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Tags
Red Red List (low evidence)	TBL1XR1	4 reviews 4 red	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	TPP1	5 reviews 4 red	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	TSC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Focal cortical dysplasia, type II, somatic 607341 Tags mosaicism somatic
No list No list	CACNA1E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Literature Phenotypes Global developmental delay Intellectual disability Seizures Dystonia Congenital contracture Macrocephaly Tags

Epileptic encephalopathy (Version 1.158)

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